CA repeat polymorphism in the promoter region of the COL1A2 gene.

A polymorphic CA dinucleotide repeat sequence has been identified within the promoter of the human alpha 2(I) procollagen gene, located at 7q21.3-q22.1. Nine alleles have been identified in unrelated individuals and the observed heterozygosity for the polymorphism was 0.66. This marker may be useful in the prenatal diagnosis of inherited connective tissue diseases in which the COL1A2 gene is involved. Furthermore, it may potentially improve the usefulness of the COL1A2 genetic system as an anthropogenetic marker.